Identification of an insertion and accompanying deletion in exon 31 of the neurofibromatosis type 1 gene.
Skuse
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GR
University of Rochester School of Medicine and Dentistry, Department of Medicine, New York 14642, USA.
D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion
D025542:Neurofibromin 1; D011506:Proteins; D004247:DNA